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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SLA/LP","SLA"],"biotype":"protein_coding","hgnc_id":"HGNC:30605","gene_name":"Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","omim_gene":["613009"],"alias_name":["soluble liver antigen/liver pancreas antigen"],"gene_symbol":"SEPSECS","hgnc_symbol":"SEPSECS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:25121627-25162204","ensembl_id":"ENSG00000109618"}},"GRch38":{"90":{"location":"4:25120014-25160442","ensembl_id":"ENSG00000109618"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"SEPSECS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12920088","29464431","29464431","20920667"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia type 2D, MIM# 613811"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14917"],"biotype":"protein_coding","hgnc_id":"HGNC:21061","gene_name":"serine active site containing 1","omim_gene":["614725"],"alias_name":null,"gene_symbol":"SERAC1","hgnc_symbol":"SERAC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158530536-158589312","ensembl_id":"ENSG00000122335"}},"GRch38":{"90":{"location":"6:158109515-158168270","ensembl_id":"ENSG00000122335"}}},"hgnc_date_symbol_changed":"2003-05-12"},"entity_type":"gene","entity_name":"SERAC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19015156","23355087","22683713","23918762","28916646","29205472"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AAT","A1A","PI1","alpha-1-antitrypsin","A1AT","alpha1AT"],"biotype":"protein_coding","hgnc_id":"HGNC:8941","gene_name":"serpin family A member 1","omim_gene":["107400"],"alias_name":["protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"],"gene_symbol":"SERPINA1","hgnc_symbol":"SERPINA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:94843084-94857030","ensembl_id":"ENSG00000197249"}},"GRch38":{"90":{"location":"14:94376747-94390693","ensembl_id":"ENSG00000197249"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}